Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520700
rs1057520700
WAS
1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0
dbSNP: rs1553785033
rs1553785033
SLC2A2
0.882 0.120 3 170998321 missense variant C/T snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0